Intellectual developmental disorder, autosomal recessive 57

Preferred Label : Intellectual developmental disorder, autosomal recessive 57;

Symbol : MRT57;

CISMeF acronym : MRT57;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane-bound O-acetyltransferase domain-containing protein 7 gene (MBOAT7, 606048.0001);

Prefixed ID : #617188;

Details

Origin ID

617188;

UMLS CUI

C4310673;

Genes related to phenotype
- Membrane-bound o-acetyltransferase domain-containing protein 7 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal-onset seizure [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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